|Institutional Source||Beutler Lab|
|Gene Name||proacrosin binding protein|
|Is this an essential gene?||Probably non essential (E-score: 0.089)|
|Stock #||R8217 (G1)|
|Chromosomal Location||125049689-125063267 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 125060958 bp|
|Amino Acid Change||Leucine to Proline at position 406 (L406P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000085632 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000088294]|
|Predicted Effect||probably damaging
AA Change: L406P
PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
AA Change: L406P
|Coding Region Coverage||
|Validation Efficiency||98% (48/49)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is similar to proacrosin binding protein sp32 precursor found in mouse, guinea pig, and pig. This protein is located in the sperm acrosome and is thought to function as a binding protein to proacrosin for packaging and condensation of the acrosin zymogen in the acrosomal matrix. This protein is a member of the cancer/testis family of antigens and it is found to be immunogenic. In normal tissues, this mRNA is expressed only in testis, whereas it is detected in a range of different tumor types such as bladder, breast, lung, liver, and colon. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in delayed fertilization due to a delay in sperm penetration of the zona pellucida. Homozygous sperm also show reduced fertilization rates of oocytes with a thick or hardened zona pellucida. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Acrbp||
(F):5'- ACCGTCCTTACAGTATGCTCTG -3'
(R):5'- TTCTAGCCCAGCAAATCGTC -3'
(F):5'- CCTTACAGTATGCTCTGGAGGTC -3'
(R):5'- AGCAAATCGTCCTTTATCTGGG -3'